Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 1

Results: 22

Association between Parkinson’s disease and polymorphisms in the nNOS and iNOS genes in a community-based case–control study.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 79, doi. 10.1093/hmg/ddg009

By:

Levecque, Clotilde;
Elbaz, Alexis;
Clavel, Jacqueline;
Florence, Florence;
Vidal, Jean-Sébastien;
Amouyel, Philippe;
Tzourio, Christophe;
Alpérovitch, Annick;
Chartier-Harlin, Marie-Christine

Publication type:

Article

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 71, doi. 10.1093/hmg/ddg004

By:

Charvin, Delphine;
Cifuentes-Diaz, Carmen;
Fonknechten, Nuria;
Joshi, Vandana;
Hazan, Jamilé;
Melki, Judith;
Betuing, Sandrine

Publication type:

Article

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 61, doi. 10.1093/hmg/ddg003

By:

Shultz, Leonard D.;
Lyons, Bonnie L.;
Burzenski, Lisa M.;
Gott, Bruce;
Samuels, Rebecca;
Schweitzer, Peter A.;
Dreger, Christine;
Herrmann, Harald;
Kalscheuer, Vera;
Olins, Ada L.;
Olins, Donald E.;
Sperling, Karl;
Hoffmann, Katrin

Publication type:

Article

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 13, doi. 10.1093/hmg/ddg001

By:

Teubner, Barbara;
Michel, Vincent;
Pesch, Jörg;
Lautermann, Jürgen;
Cohen-Salmon, Martine;
Söhl, Goran;
Jahnke, Klaus;
Winterhager, Elke;
Herberhold, Claus;
Hardelin, Jean-Pierre;
Petit, Christine;
Willeck, Klaus

Publication type:

Article

The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 51, doi. 10.1093/hmg/ddg005

By:

Varilo, Teppo;
Paunio, Tiina;
Parker, Alex;
Perola, Markus;
Meyer, Joanne;
Terwilliger, Joseph D.;
Peltonen, Leena

Publication type:

Article

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 41, doi. 10.1093/hmg/ddg006

By:

Libby, Randell T.;
Monckton, Darren G.;
Ying-Hui Fu;
Martinez, Refugio A.;
McAbney, John P.;
Lau, R.;
Einum, David D.;
Nichol, K.;
Ware, Carol B.;
Ptacek, Louis J.;
Pearson, Christopher E.;
La Spada, Albert R.

Publication type:

Article

Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 33, doi. 10.1093/hmg/ddg008

By:

Kauppi, Liisa;
Sajantila, Antti;
Jeffreys, Alec J.

Publication type:

Article

Results of a high-resolution genome screen of 437 Alzheimer’s Disease families.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 23, doi. 10.1093/hmg/ddg007

By:

Deborah, Deborah;
Bertram, Lars;
Saunders, Aleister J.;
Moscarillo, Thomas J.;
Albert, Marilyn S.;
Wiener, Howard;
Perry, Rodney T.;
Collins, Julianne S.;
Harrell, Lindy E.;
Go, Rodney C. P.;
Mahoney, Amy;
Beaty, Terri;
Fallin, M. Danielle;
Avramopoulos, Dimitrios;
Chase, Gary A.;
Folstein, Marshal F.;
McInnis, Melvin G.;
Bassett, Susan S.;
Doheny, Kimberly J.;
Pugh, Elizabeth W.

Publication type:

Article

Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. 1, doi. 10.1093/hmg/ddg002

By:

Haibing Jiang;
Nucifora.Jr, Frederick C.;
Ross, Christopher A.;
DeFranco, Donald B.

Publication type:

Article

Vascular morphogenesis: tales of two syndromes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r97

By:

Marchuk, Douglas A.;
Srinivasan, Sudha;
Squire, Teresa L.;
Zawistowski, Jon S.

Publication type:

Article

Genetic modifiers in human development and malformation syndromes, including chaperone proteins.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r45

By:

Slavotinek, Anne;
Biesecker, Leslie G.

Publication type:

Article

Pathogenesis of split-hand/split-foot malformation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r51, doi. 10.1093/hmg/ddg090

By:

Duijf, Pascal H.G.;
van Bokhoven, Hans;
Brunner, Han G.

Publication type:

Article

Lissencephaly and the molecular basis of neuronal migration.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r89

By:

Kato, Mitsuhiro;
Dobyns, William B.

Publication type:

Article

Normal and abnormal dental development.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r69

By:

Miletich, Isabelle;
Sharpe, Paul T.

Publication type:

Article

Roles of BRCA1 in DNA damage repair: a link between development and cancer.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r113

By:

Deng, Chu-Xia;
Wang, Rui-Hong

Publication type:

Article

T-box genes in human disorders.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r37

By:

Packham, Elizabeth A.;
Brook, J. David

Publication type:

Article

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r75

By:

Herman, Gail E.

Publication type:

Article

Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r61

By:

Weksberg, Rosanna;
Smith, Adam C.;
Squire, Jeremy;
Sadowski, Paul

Publication type:

Article

To beat or not to beat: roles of cilia in development and disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r27

By:

Ibañez-Tallon, Inés;
Heintz, Nathaniel;
Omran, Heymut

Publication type:

Article

How a Hedgehog might see holoprosencephaly.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r15

By:

Roessler, Erich;
Muenke, Maximilian

Publication type:

Article

DNA microarrays and development.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r1

By:

Smith, Lee;
Greenfield, Andy

Publication type:

Article

Notch signaling and inherited disease syndromes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r9

By:

Gridley, Thomas

Publication type:

Article